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2. Mendelian Genetics

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2. Mendelian Genetics

Gregor Mendel and the Discovery of Genetic Transmission

Gregor Mendel, often referred to as the father of genetics, discovered the basic principles of genetic transmission through his experiments with pea plants (Pisum sativum). His work laid the foundation for modern genetics by demonstrating how traits are inherited from one generation to the next.

  • Background: Mendel pursued natural sciences and chose to study heredity in peas, which offered distinct, easily observable traits.

  • Experimental Approach: He obtained 34 varieties of peas and identified 14 strains representing seven specific traits, each with two distinguishable forms.

  • Significance: Mendel's findings, published in 1866, were not appreciated until their rediscovery in 1900, which revolutionized biology.

Mendel’s Experimental Innovations

Mendel’s success was due to his rigorous scientific method and several critical experimental innovations.

  • Controlled Crosses: Pea plants can self-fertilize or be cross-fertilized. Mendel used artificial cross-fertilization by removing anthers and introducing pollen with a brush.

  • Pure-Breeding Strains: He established strains that consistently produced the same phenotype, starting each experiment with pure-breeding parental (P) generation plants.

  • Selection of Dichotomous Traits: Mendel selected traits with only two possible phenotypes, such as yellow vs. green seed color.

  • Quantification of Results: He counted large numbers of progeny and identified consistent ratios between phenotypes.

  • Replicate, Reciprocal, and Test Crosses: Mendel repeated crosses, reversed parental sexes (reciprocal), and performed test crosses to determine unknown genotypes.

The Seven Dichotomous Traits of Pisum sativum

Mendel studied seven traits, each with a dominant and recessive phenotype.

Trait

Dominant Phenotype

Recessive Phenotype

Seed color

Yellow

Green

Seed shape

Round

Wrinkled

Pod color

Green

Yellow

Pod shape

Inflated

Constricted

Flower color

Purple

White

Flower position

Axial

Terminal

Plant height

Tall (72–84 cm)

Short (18–24 cm)

The Blending Theory of Inheritance

Before Mendel, the blending theory suggested that offspring traits were a mix of parental traits, with no reappearance of original traits in subsequent generations. Mendel’s experiments disproved this theory.

  • Example: Under blending theory, crossing a black and white cat would yield only gray kittens, with no black or white traits reappearing.

Mendel’s Scientific Method

Mendel’s approach followed the modern scientific method:

  1. Make initial observations

  2. Formulate a testable hypothesis

  3. Design a controlled experiment

  4. Collect data

  5. Interpret results

  6. Draw conclusions and reformulate hypothesis if necessary

Key Point: Careful experimental design was central to Mendel’s success.

Monohybrid Crosses and the Segregation of Alleles

Monohybrid crosses involve organisms heterozygous for one gene. Mendel’s experiments revealed the segregation of alleles and the concept of dominant and recessive traits.

  • Dominant Phenotype: The trait expressed in the F1 generation (e.g., yellow peas).

  • Recessive Phenotype: The trait not expressed in F1 but reappearing in F2 (e.g., green peas).

  • Homozygous: Individuals with identical alleles for a trait.

  • Heterozygous: Individuals with different alleles for a trait.

Consistent Experimental Results

  • Dominance of one phenotype in F1

  • Reemergence of recessive phenotype in F2

  • Approximate 3:1 ratio of dominant:recessive in F2

Table: Mendel’s Observations for Seven Monohybrid Traits

Cross

F1 Dominant

F1 Recessive

F2 Ratio

Round x wrinkled seed

5474 round

1850 wrinkled

2.96:1

Yellow x green seed

6022 yellow

2001 green

3.01:1

Purple x white flower

705 purple

224 white

3.15:1

Inflated x constricted pod

882 inflated

299 constricted

2.95:1

Green x yellow pod

428 green

152 yellow

2.82:1

Axial x terminal flower

651 axial

207 terminal

3.14:1

Tall x short plant

787 tall

277 short

2.84:1

Particulate Inheritance and Alleles

Mendel proposed the theory of particulate inheritance, stating that organisms carry two discrete hereditary units (alleles) for each trait, one from each parent. These alleles determine the phenotype.

  • Alleles: Hereditary particles represented by letters (e.g., G/g for seed color).

Monohybrid Cross Ratios

  • Phenotypic Ratio: 3:1 (dominant:recessive) in F2

  • Genotypic Ratio: 1:2:1 (homozygous dominant : heterozygous : homozygous recessive)

Example Punnett Square for G/g x G/g:

  • Gametes: G and g from each parent

  • Offspring: GG, Gg, Gg, gg

Mendel’s First Law: Law of Segregation

The law of segregation states that the two alleles for each trait separate during gamete formation, and randomly unite at fertilization. This law applies to all seven traits Mendel studied.

  • Equation: , ,

Test-Cross Analysis

Test crosses are used to determine the genotype of an organism with a dominant phenotype by crossing it with a homozygous recessive individual.

  • If the dominant individual is heterozygous, offspring will be 1:1 dominant:recessive.

  • If homozygous, all offspring will show the dominant trait.

Test Cross

Dominant Progeny

Recessive Progeny

Ratio

Round seed x wrinkled seed

193 round

192 wrinkled

1.01:1

Yellow seed x green seed

196 yellow

189 green

1.04:1

Purple flower x white flower

85 purple

81 white

1.05:1

Tall plant x short plant

87 tall

79 short

1.10:1

Key Terms and Definitions

  • Phenotype: Observable trait or characteristic.

  • Genotype: Genetic makeup of an organism (combination of alleles).

  • Allele: Alternative form of a gene.

  • Homozygous: Having two identical alleles for a trait.

  • Heterozygous: Having two different alleles for a trait.

  • P Generation: Parental generation in a genetic cross.

  • F1 Generation: First filial generation, offspring of the P generation.

  • F2 Generation: Second filial generation, offspring of F1 individuals.

Example Application

If a pea plant with yellow seeds (dominant) is crossed with a plant with green seeds (recessive), and all F1 offspring are yellow, the yellow parent is likely homozygous. If F1 plants are self-fertilized, the F2 generation will show a 3:1 ratio of yellow to green seeds.

Additional info: These notes expand on the original slides by providing definitions, context, and examples for key genetic concepts, ensuring a comprehensive understanding suitable for college-level genetics students.

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